Immune-mediated sensorineural hearing loss may complicate systemic autoimmune diseases. We have previously reported the presence of antibodies directed against inner ear antigens in patients with Cogan syndrome, a disease characterized by sudden hearing loss and interstitial keratitis. Such autoantibodies cross-react with an epitope of SSA/Ro60 protein. Anti-Ro/SSA antibodies in pregnant women cross the placenta and reach the fetal tissues inducing an immune-mediated damage of the cardiac conduction system...

On the basis that diagnosis of neuropsychiatric systemic lupus erythematosus (NPSLE) is sometimes difficult and systemic lupus erythematosus (SLE) can present with isolated psychiatric symptoms, we initiated a survey in a psychiatric department to screen for NPSLE in young female inpatients.We prospectively studied consecutive young female patients referred to the department of psychiatry. Antinuclear antibodies (ANA), anti-deoxyribonucleic acid (DNA), and antiextractable soluble nuclear antigens (ENA) in the serum of patients were screened...

The purpose of this study was to investigate the characteristics of primary Sjögren's syndrome (pSS) patients with IgG4 positive (IgG4(+)) plasma cell infiltration in labial salivary glands (LSGs). Paraffin sections of LSGs from 336 pSS patients were stained with IgG4 and IgG monoclonal antibodies. According to the infiltration of IgG4(+) plasma cells, patients were divided and clinical and serological characteristics were analyzed and compared. Based on the infiltration of IgG4(+) plasma cells in the LSGs, patients were divided into three subgroups, low IgG4, moderate IgG4, and high IgG4 groups...

Lichen sclerosus et atrophicus and limited systemic scleroderma (acrosclerosis) are inflammatory skin diseases that ultimately evolve into two distinct modes of atrophic scar formation, but which can easily be confused clinically. They are very rarely associated. The literature has reported cases in which lichen sclerosus was associated with various forms of scleroderma, but often with localized morphea. The characteristic histopathological picture of lichen sclerosus includes a thin epidermis, with orthohyperkeratosis and vascular degeneration in the basal layer, loss of elastic fibers, and band-like inflammatory infiltrate in the papillary dermis, while systemic sclerosis is characterized by excessive deposition of collagen in the dermis, accompanied by reduction in adnexal structures and their entrapment in collagen, and the presence of perivascular lymphocytic inflammatory infiltrate...

A 36-year-old woman developed hypokalemic metabolic alkalosis after anti SS-A antibody was found to be positive. Diuretic loading test results were compatible with Gitelman syndrome (GS). The patient had a heterozygous mutation in SLC12A3, which encodes for thiazide-sensitive NaCl cotransporter (NCCT). While the mutation may be responsible for a latent hypofunction of NCCTs, the underlying anti-SSA antibody-associated autoimmunity induced the manifestation of its hypofunction. To the best of our knowledge, this is the first report to demonstrate that anti SS-A antibody-associated autoimmunity may induce GS in a patient with a SLC12A3 heterozygous mutation...

OBJECTIVES: To develop and validate an international set of classification criteria for primary Sjögren's syndrome (SS) using guidelines from the American College of Rheumatology (ACR) and the European League Against Rheumatism (EULAR). These criteria were developed for use in individuals with signs and/or symptoms suggestive of SS. METHODS: We assigned preliminary importance weights to a consensus list of candidate criteria items, using multi-criteria decision analysis...

OBJECTIVE: To develop and validate an international set of classification criteria for primary Sjögren's syndrome (SS) using guidelines from the American College of Rheumatology (ACR) and the European League Against Rheumatism (EULAR). These criteria were developed for use in individuals with signs and/or symptoms suggestive of SS. METHODS: We assigned preliminary importance weights to a consensus list of candidate criteria items, using multi-criteria decision analysis...

OBJECTIVE: To assess esophageal involvement (EI) in juvenile localized scleroderma (JLS) population and the possible association between this gastrointestinal manifestation and demographic data, clinical features, laboratory exams, treatments and outcomes. METHODS: For a period of 31 years, 5,881 patients with rheumatic diseases were followed in our Pediatric Rheumatology Division. EI was defined by the presence of symptoms (solid/liquid dysphagia, heartburn, esophageal regurgitation, nausea/vomiting and epigastralgia) and confirmed by at least one EI exam abnormality: barium contrast radiography, upper gastrointestinal endoscopy and 24-hour esophageal pH-monitoring...

OBJECTIVE: To describe the clinical phenotype and natural history of a cohort of patients with interstitial pneumonia with autoimmune features (IPAF). METHODS: A retrospective, single center study of 56 patients with IPAF evaluated between February 2008 and August 2014. All clinical data were extracted from the electronic medical record and longitudinal changes in forced vital capacity (FVC) were analyzed with mixed-effects, piecewise linear regression models that considered time as a continuous factor...

Occurrence of pulmonary arterial hypertension (PAH) in idiopathic inflammatory myopathies (IIMs) without extensive interstitial lung disease (ILD) has rarely been described in the medical literature. This study aimed to report all cases with association of PAH and IIM in the French Pulmonary Hypertension (PH) Registry, to identify IIM features associated with the presence of PAH, and to describe treatment modalities of these patients.All cases of IIM-PAH were retrieved from the French PH Registry, which gathers PH patients prospectively enrolled by 27 referral hospital centers across France...

BACKGROUND: Autoimmune fetal congenital heart block (CHB) is the most severe manifestation of neonatal lupus, and it is seen when maternal autoimmune antibodies cross the placenta and damage the AV node of the fetus. CHB is mainly associated with maternal SLE with anti-Ro/SSA- and anti-La/SSB-positive status, and incidence of CHB increases when both the antibodies are present. This study was conducted to know the incidence of fetal CHB in patients of SLE who had ANA, anti-Ro/SSA and anti-La/SSB positivity...

OBJECTIVES: Systemic capillary leak syndrome (Clarkson's disease) is a rare entity characterized by recurrent and unpredictable attacks of capillary leakage of plasma fluid and proteins throughout the endothelium. Some cases are secondary. We describe the rare association between secondary capillary leak syndrome (SCLS) and autoimmune diseases. METHODS: We conducted a nationwide, retrospective, observational, and collaborative study throughout the hospital units of the Club des Rhumatismes et Inflammations network (CRI) between March and August 2015...

BACKGROUND: The clinical picture of IgG4-related sclerosing disease (IgG4-RSD) may mimic lymphoma, and should be in the differential diagnosis of patients with this clinical picture. CASE SUMMARY: A 32-year-old female had recurrent swelling of both eyelids for more than 15 years. Examination revealed elastic, firm, swollen lacrimal glands about 2-3 cm in diameter that was not painful. Head and orbits magnetic resonance imaging (MRI) showed mass lesions over the bilateral lacrimal glands, submandibular glands, and left foramen of ovale...

OBJECTIVE: To investigate the relationship between neuromyelitis optica spectrum disorder (NMOSD) and autoantibodies. METHODS: Blood samples of 108 NMOSD patients and 38 controls were collected from January 2012 to August 2014. Immunological parameters, including anti-aquaporin 4, antinuclear, anti-ribonucleoprotein, anti-SM, anti-SSA/Ro, anti-SSB/La and anti-ribosomal P-protein autoantibodies were examined. RESULTS: The NMOSD group exhibited a significantly higher percentage of anti-aquaporin 4 antibodies compared with the control group (76...

The Escherichia coli phytase gene appA encoding enzyme AppA was cloned in a broad host range plasmid pBBR1MCS2 (lac promoter), termed pVA1, and transformed into the Ensifer meliloti 1020. Transformation of pVA1 in Ensifer meliloti {E. m (pVA1)} increased its phosphatase and phytase activity by ∼9- and ∼50-fold, respectively, compared to the transformants containing empty plasmid as control {E. m (pBBR1MCS2)}. The western blot experiments using rabbit anti-AppA antibody showed that AppA is translocated into the periplasm of the host after its expression...

BACKGROUND: Primary Sjögren syndrome is a chronic inflammatory autoimmune disease. The delay in diagnosis allows the establishment of a chronic inflammatory state, which makes primary Sjögren syndrome an interesting model for the study of atherosclerosis. OBJECTIVES: The aim of this study was to evaluate subclinical atherosclerosis in 49 patients with Sjögren syndrome using noninvasive methods. METHODS: We assessed traditional risk factors such as hypertension, diabetes, dyslipidemia, smoking, and family history of atherosclerosis...

Congenital heart block (CHB) is a potentially lethal condition characterized by a third-degree atrioventricular block (AVB). Despite anti-Ro52 antibodies being detected in nearly 90% of mothers of affected children, CHB occurs in only 1-2% of anti-Ro/Sjögren's-syndrome-related antigen A (SSA) autoantibody-positive pregnancies. Maternal antibodies have been suggested to bind molecules crucial to fetal cardiac function; however, it remains unknown whether a single antibody profile associates with CHB or whether several specificities and cross-reactive targets exist...

This is the largest direct immunofluorescence (DIF) analysis of patients with histology-proven cutaneous leukocytoclastic vasculitis (LCV). To establish the correlation of deposition of immune complexes at the blood vessel walls with underlying causes and prognosis of LCV, we performed a retrospective study from January 2007 to December 2014. The patients are followed at the Department of Dermatology, Hospital Das Clínicas da Faculdade de Medicina da Universidade de São Paulo, a tertiary hospital at São Paulo, Brazil...